Kwiatkowska, Katarzyna and Marszałek-Sadowska, Ewelina and Traczyk, Gabriela and Koprowski, Piotr and Musielak, Małgorzata and Lugowska, Agnieszka and Kulma, Magdalena and Grzelczyk, Anna and Sobota, Andrzej (2014) Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O. Orphanet journal of rare diseases, 9 . p. 64. ISSN 1750-1172
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Official URL: http://www.ojrd.com/content/pdf/1750-1172-9-64.pdf
Abstract
Niemann-Pick disease type C (NPC) is caused by defects in cholesterol efflux from lysosomes due to mutations of genes coding for NPC1 and NPC2 proteins. As a result, massive accumulation of unesterified cholesterol in late endosomes/lysosomes is observed. At the level of the organism these cholesterol metabolism disorders are manifested by progressive neurodegeneration and hepatosplenomegaly. Until now filipin staining of cholesterol deposits in cells has been widely used for NPC diagnostics. In this report we present an alternative method for cholesterol visualization and estimation using a cholesterol-binding bacterial toxin, perfringolysin O.
| Item Type: | Article |
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| Subjects: | R Medicine > RB Pathology R Medicine > RM Therapeutics. Pharmacology |
| Divisions: | Department of Biophysics |
| ID Code: | 773 |
| Deposited By: | Magdalena Kulma |
| Deposited On: | 04 Nov 2014 09:07 |
| Last Modified: | 04 Nov 2014 09:07 |
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